Canonical Allele Identifier: CA399000440

Gene: NF1

Linked Data

• MyVariant Identifiers: chr17:g.29588819T>A (hg19) ; chr17:g.31261801T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31261801T>A , CM000679.2:g.31261801T>A	GRCh38
NC_000017.10:g.29588819T>A , CM000679.1:g.29588819T>A	GRCh37
NC_000017.9:g.26612945T>A	NCBI36
NG_009018.1:g.171825T>A , LRG_214:g.171825T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000581113.7:c.470T>A	ENSP00000492721.2:p.Ile157Lys
ENST00000696138.1:c.4650T>A	ENSP00000512431.1:p.Asp1550Glu
ENST00000696140.1:n.774T>A
ENST00000696141.1:c.659T>A
ENST00000687863.1:n.1313T>A
ENST00000691014.1:c.4698T>A	ENSP00000510595.1:p.Asp1566Glu
ENST00000358273.9:c.4668T>A MANE Select	ENSP00000351015.4:p.Asp1556Glu
ENST00000356175.7:c.4605T>A	ENSP00000348498.3:p.Asp1535Glu
ENST00000358273.8:c.4668T>A	ENSP00000351015.4:p.Asp1556Glu
ENST00000456735.6:c.3603T>A	ENSP00000389907.2:p.Asp1201Glu
ENST00000493220.5:n.3141T>A
ENST00000579081.5:c.4707T>A	ENSP00000462408.1:p.Asp1569Glu
NM_000267.3:c.4605T>A , LRG_214t1:c.4605T>A	NP_000258.1:p.Asp1535Glu
NM_001042492.2:c.4668T>A , LRG_214t2:c.4668T>A	NP_001035957.1:p.Asp1556Glu
XM_005257983.1:c.4668T>A	XP_005258040.1:p.Asp1556Glu
XM_005257984.1:c.4605T>A	XP_005258041.1:p.Asp1535Glu
XM_006721922.1:c.4698T>A	XP_006721985.1:p.Asp1566Glu
XM_006721923.2:c.4659T>A	XP_006721986.1:p.Asp1553Glu
XM_006721924.1:c.4698T>A	XP_006721987.1:p.Asp1566Glu
XM_006721925.1:c.4635T>A	XP_006721988.1:p.Asp1545Glu
XM_006721926.2:c.4698T>A	XP_006721989.1:p.Asp1566Glu
XM_006721927.1:c.4698T>A	XP_006721990.1:p.Asp1566Glu
XM_006721928.2:c.4698T>A	XP_006721991.1:p.Asp1566Glu
XM_011524852.1:c.4695T>A	XP_011523154.1:p.Asp1565Glu
XM_011524853.1:c.4659T>A	XP_011523155.1:p.Asp1553Glu
XM_011524854.1:c.4659T>A	XP_011523156.1:p.Asp1553Glu
XM_011524855.1:c.4659T>A	XP_011523157.1:p.Asp1553Glu
XM_011524856.1:c.4659T>A	XP_011523158.1:p.Asp1553Glu
XM_011524857.1:c.4698T>A	XP_011523159.1:p.Asp1566Glu
NM_001042492.3:c.4668T>A MANE Select	NP_001035957.1:p.Asp1556Glu